No simple cause for sexual orientation has been conclusively demonstrated, and there is no scientific consensus as to whether the contributing factors are primarily biological or environmental. Many think both play complex roles.. The American Academy of Pediatrics and the American Psychological Association have both stated that sexual orientation probably has multiple causes. Conclusive proof of a biological cause of sexual orientation would have significant political and cultural implications.
A number of twin studies have attempted this kind of isolation. As Bearman and Bruckner (2002) describe it, early studies concentrated on small, select samples, which showed very high genetic influences; however, they were also easily criticized for non-representative selection of their subjects. Later studies, performed on increasingly representative samples, showed much lesser concordance among MZ twins, although still significantly larger than among DZ twins.
For example, a recent meta-study by Hershberger (2001) compares the results of eight different twin studies: among those, all but two showed MZ twins having much higher concordance of sexual orientation than DZ twins, suggesting a non-negligible genetic component. Two additional examples: Bailey and Pillard (1991) in a study of gay twins found that 52% of monozygotic (MZ) brothers and 22% of the dizygotic (DZ) twins were concordant for homosexuality. Also, Bailey, Dunne and Martin (2000) used the Australian twin registry to obtain a sample of 4,901 twins. Self reported zygosity, sexual attraction, fantasy and behaviours were assessed by questionnaire and zygosity was serologically checked when in doubt. MZ twin concordance for homosexuality was found to be 30%.
As a counter-example, Bearman and Bruckner (2002), analyzed data from a large longitudinal study of adolescents. They found the data did not support genetic influence:
Among [identical] twins, 6.7% are concordant [that is, both express same-sex romantic attraction]. [Fraternal] twin pairs are 7.2% concordant. Full-siblings are 5.5% concordant. Clearly, the observed concordance rates do not correspond to degrees of genetic similarity. None of the comparisons between [identical] twins and others ... are even remotely significant. If same-sex romantic attraction has a genetic component, it is massively overwhelmed by other factors.
Their conclusion is that the expression of same-sex attraction requires a social environment: "More plausible is the idea that genetic expression is activated only under strongly circumscribed social structural conditions. In contrast to other theories considered below, we assume that the close connection between gender identity and sexual identity is socially constructed."
A recent study of all adult twins in Sweden (more than 7,600 twins) found that same-sex behavior was explained by both heritable factors and individual-specific environmental sources (such as prenatal environment, experience with illness and trauma, as well as peer groups, and sexual experiences), while influences of shared-environment variables such as familial environment and societal attitudes had a weaker significant effect. Women showed a statistically non-significant trend to weaker influence of hereditary effects, while men showed no effect of shared environmental effects. The use of all adult twins in Sweden was designed to address the criticism of volunteer studies, in which a potential bias towards participation by gay twin may influence the results (see below).
Overall, the environment shared by twins (including familial and societal attitudes) explained 0-17% of the choice of sexual partner, genetic factors 18-39% and the unique environment 61-66%. The individual's unique environment includes, for example, circumstances during pregnancy and childbirth, physical and psychological trauma (e.g., accidents, violence, and disease), peer groups, and sexual experiences. [...] In men, genetic effects explained .34–.39 of the variance, the shared environment .00, and the individual-specific environment .61–.66 of the variance. Corresponding estimates among women were .18–.19 for genetic factors, .16–.17 for shared environmental, and 64–.66 for unique environmental factors.
Another issue is the recent finding that even monozygotic twins can be different and there is a mechanism which might account for monozygotic twins being discordant for homosexuality. Gringas and Chen (2001) describe a number of mechanisms which can lead to differences between monozygotic twins, the most relevant here being chorionicity and amniocity. Dichorionic twins potentially have different hormonal environments and receive maternal blood from separate placenta. Monoamniotic twins share a hormonal environment, but can suffer from the 'twin to twin transfusion syndrome' in which one twin is "relatively stuffed with blood and the other exsanguinated". If one twin receives less testosterone and the other more, this could result in different levels of brain masculinisation.
Counter-studies such as Bearman and Bruckner (2002) are also subject to critique, because of their reliance on self-reports from adolescents (ie. between 7th and 12th grade), who have not reached sexual maturity.
A later analysis by Hu et al. revealed that 67% of gay brothers in a new saturated sample shared a marker on the X chromosome at Xq28. Sanders et al. (1998) replicated the study, finding 66% Xq28 marker sharing in 54 pairs of gay brothers. On the other hand, two other studies (Bailey et al., 1999; McKnight and Malcolm, 2000) failed to find a preponderance of gay relatives in the maternal line of homosexual men. Also, a study by Rice et al. in 1999 failed to replicate the Xq28 linkage results,
Additionally, Mustanski et al. (2005) performed a full-genome scan (instead of just an X chromosome scan) on individuals and families previously reported on in Hamer et al. (1993) and Hu et al. (1995), as well as additional new subjects. With the larger sample set and complete genome scan, the study found much weaker link for Xq28 than reported by Hamer et al. However, they did find other markers with significant likelihood scores at 8p12, 7q36 and 10q26, the latter two having approximately equivalent maternal and paternal contributions.
These studies examined homosexuality in only males.
Bocklandt, Horvath, Vilain and Hamer (2006) reported that some mothers of gay babies have extreme skewing of X chromosome inactivation. Using a sample of 97 mothers of homosexual men and 103 mothers of heterosexual men, the pattern of X inactivation was ascertained from blood assays. 4% of the mothers of straight men showed extreme skewing compared to 13% of the mothers of gay men. Mothers of two or more gay babies had extreme skewing of X inactivation of 23%. This extreme skewing may influence male sexual orientation through the fraternal birth order effect.
An alternate theory was proposed by Italian researchers in 2004 supported by a study of about 4,600 people who were the relatives of 98 homosexual and 100 heterosexual men. Female relatives of the homosexual men tended to have more offspring than those of the heterosexual men. Female relatives of the homosexual men on their mother's side tended to have more offspring than those on the father's side. The researchers concluded that there was genetic material being passed down on the X chromosome which both promotes fertility in the mother and homosexuality in her male offspring. The connections discovered, however, would explain only 20% of the cases studied, indicating that this might not be the sole genetic factor determining sexual orientation.
Homosexuals of either sex are more likely than the general population to be non-right-handed. (See also Handedness and sexual orientation.)
Early work of this type was also done by Simon LeVay. LeVay studied four groups of neurons in the hypothalamus, called INAH1, INAH2, INAH3 and INAH4. This was a relevant area of the brain to study, because of evidence that this part of the brain played a role in the regulation of sexual behaviour in animals, and because INAH2 and INAH3 had previously been reported to differ in size between men and women.
He obtained brains from 41 deceased hospital patients. The subjects were classified as follows: 19 gay men who had died of AIDS, 16 presumed heterosexual men (6 of whom had died of AIDS), and 6 presumed heterosexual women (1 of whom had died of AIDS). The AIDS patients in the heterosexual groups were all identified from medical records as intravenous drug abusers or recipients of blood transfusions, though only 2 of the men in this category had specifically denied homosexual activity. The records of the remaining heterosexual subjects contained no information about their sexual orientation; they were assumed to have been mostly or all heterosexual "on the basis of the numerical preponderance of heterosexual men in the population." LeVay found no evidence for a difference between the groups in the size of INAH1, INAH2 or INAH4. However, the INAH3 group appeared to be twice as big in the heterosexual male group as in the gay male group; the difference was highly significant, and remained significant when only the 6 AIDS patients were included in the heterosexual group. The size of the INAH3 in the homosexual male brains was similar to that in the heterosexual female brains. However, he also found some contrary results:
William Byne and colleagues attempted to replicate the differences reported in INAH 1-4 size using a different sample of brains from 14 HIV-positive homosexual males, 34 presumed heterosexual males (10 HIV-positive), and 34 presumed heterosexual females (9 HIV-positive). They found a significant difference in INAH3 size between heterosexual men and women. The INAH3 size of the homosexual men was apparently smaller than that of the heterosexual men and larger than that of the heterosexual women, though neither difference quite reached statistical significance.
Byne and colleagues also weighed and counted numbers of neurons in INAH3, tests not carried out by LeVay. The results for INAH3 weight were similar to those for INAH3 size; that is, the INAH3 weight for the heterosexual male brains was significantly larger than for the heterosexual female brains, while the results for the gay male group were between those of the other two groups but not quite significantly different from either. The neuron count also found a male-female difference in INAH3, but found no trend related to sexual orientation.
He later added,
A sort of reverse sexual imprinting has been observed in heterosexual humans; see the section on the "Westermarck effect" in Behavioral imprinting.
Several different triggers for imprinting upon a particular sexual orientation have been proposed.
One hypothesis is that something about what young children see in the gender-roles behavior of adults, or some differences (possibly unconscious) in the way adults treat young children, somehow influences or determines a child's eventual sexual orientation.
The theory is based in part on the frequent finding that a majority of gay men and lesbians report being gender-nonconforming during their childhood years. A meta-analysis of 48 studies showed childhood gender nonconformity to be the strongest predictor of a homosexual orientation for both men and women. Fourteen studies published since Bailey & Zucker's 1995 also show the same results. In one study by the Kinsey Institute of approximately 1000 gay men and lesbians (and a control group of 500 heterosexual men and women), 63% of both gay men and lesbians reported that they were gender nonconforming in childhood (i.e., did not like activities typical of their sex), compared with only 10-15% of heterosexual men and women. There are also six "prospective" studies--that is longitudinal studies that begin with gender-nonconforming boys at about age 7 and follow them up into adolescence and adulthood. These also show that a majority (63%) of the gender nonconforming boys become gay or bisexual as adults. There are very few prospective studies of gender nonconforming girls. In a group of eighteen behaviorally masculine girls (mean age of assessment: 9 years), all reported a homosexual sexual orientation at adolescence, and eight had requested sex reassignment.
William Reiner, a psychiatrist and urologist with the University of Oklahoma has evaluated more than a hundred cases of children born with sexual differentiation disorders. In the 1960s and 70s, it was common in developed countries for doctors to castrate boys born with a micropenis and have them raised as girls. However, this practice has come under attack, because even though these boys were raised as girls, they nearly all report as adults that they are sexually attracted to women. This suggests that their sexual orientation was determined at birth. The only cases Reiner found where children born with a X and Y chromosome are attracted to males as adults were those where testosterone receptors were absent, which prevented the male sex hormones from masculinizing the fetus.
The pathogenic hypothesis of homosexuality, also called the 'gay germ' hypothesis, suggests that homosexuality might be caused by an infectious agent. The speculative hypothesis was suggested by Gregory Cochran and Paul Ewald as part of a larger project advocating a number of pathogenic theories of disease. They argue that because of the supposedly reduced number of offspring produced by gay and lesbian people, evolution would strongly select against it. They also draw an analogy to diseases that alter brain structure and behavior, such as narcolepsy, which are suspected of being triggered by viral infection. Cochran also argues that the prevalence of homosexuality in urban areas suggests that an infectious disease causes homosexuality. They conclude that it is a "feasible hypothesis... no more and no less." After being unable to publish this account in a peer-reviewed journal, the idea appeared in the popular press. An American Philosophical Association newsletter the following year stated "there is ultimately very little to be said in favor of these contentions", and criticised the press attention gained, given a lack of peer reviewed publication of the theory, and questioned the general ethics of communication of theories about homosexuality by researchers to the public. In an article in Out Magazine, brain researhcer William Byne stated "Cochran and Ewald are guilty of pathologizing homosexuality", while in the same article psychology professor J. Michael Bailey posited that a 'germ theory' did not necessarily mean homosexuality was a disease, but recognised the political ammunition such a belief could give to homophobes.
Those who believe that homosexuality is purely genetic argue that maladaptive traits will only be removed from a population if the trait is under simple, direct selection, if it derives from a heritable component of a genotype and if the intensity of selection is greater than other evolutionary forces like genetic drift, or inclusive fitness.
Some scholars have suggested that homosexuality is adaptive in a non-obvious way. By way of analogy, the allele (a particular version of a gene) which causes sickle-cell anemia when two copies are present may also confer resistance to malaria with a lesser form of anemia when one copy is present (this is called heterozygous advantage).
The so-called "gay uncle" theory posits that people who themselves do not have children may nonetheless increase the prevalence of their family's genes in future generations by providing resources (food, supervision, defense, shelter, etc.) to the offspring of their closest relatives. This hypothesis is an extension of the theory of kin selection. Kin selection was originally developed to explain apparent altruistic acts which seemed to be maladaptive. The initial concept was suggested by J.B.S. Haldane in 1932 and later elaborated by many others including John Maynard Smith and West Eberhard. This concept was also used to explain the patterns of certain social insects where most of the members are non-reproductive.
The primary criticism of this theory has to do with the fact that children share on average 25% of their genes with their uncles and aunts, but on average 50% with their parents. This means that to be adaptive, a "gay uncle" would need to somehow assist an extra two nieces or nephews, on average, to reach adulthood for every one of their own offspring they give up. Critics of the theory find this trade-off to be unlikely to produce a net reproductive gain.
The alleged evolutionary disadvantage of homosexuality has led Amherst College biologist Paul W. Ewald to argue that it might be caused by an as-yet undetected virus working in utero that triggers hormonal responses.
The perceived causes of sexual orientation have a significant bearing on the status of sexual minorities such as lesbians and gays. The Family Research Council, a conservative Christian think tank in Washington, D.C., argues in the book Getting It Straight that finding people are born gay "would advance the idea that sexual orientation is an innate characteristic, like race; that homosexuals, like African-Americans, should be legally protected against 'discrimination;' and that disapproval of homosexuality should be as socially stigmatized as racism. However, it is not true."
One prominent evangelical leader, Rev. Rob Schenck, who used to advocate conversion therapy, came to believe that homosexuality is not a choice after speaking with scientists, and that conservative Christians need to drop the choice argument in order to continue opposing homosexual sex. He was quoted in the Boston Globe as saying "if it's inevitable that this scientific evidence is coming, we have to be prepared with a loving response. If we don't have one, we won't have any credibility."
Some advocates for the rights of sexual minorities also resist the idea that sexuality is biologically determined, or fixed at birth. They point out that sexual orientation can shift over the course of one's life. Many resist any attempts to pathologise or medicalise 'deviant' sexuality, and choose to fight for acceptance in a moral or social realm. Others fear that discoveries about medical causes of sexuality may be used by doctors and parents to eradicate non-heterosexual orientations.